224 related articles for article (PubMed ID: 8095368)
1. Compound heterozygosity for metachromatic leukodystrophy and arylsulfatase A pseudodeficiency alleles is not associated with progressive neurological disease.
Penzien JM; Kappler J; Herschkowitz N; Schuknecht B; Leinekugel P; Propping P; Tønnesen T; Lou H; Moser H; Zierz S
Am J Hum Genet; 1993 Mar; 52(3):557-64. PubMed ID: 8095368
[TBL] [Abstract][Full Text] [Related]
2. Disease-causing mutations in cis with the common arylsulfatase A pseudodeficiency allele compound the difficulties in accurately identifying patients and carriers of metachromatic leukodystrophy.
Rafi MA; Coppola S; Liu SL; Rao HZ; Wenger DA
Mol Genet Metab; 2003 Jun; 79(2):83-90. PubMed ID: 12809637
[TBL] [Abstract][Full Text] [Related]
3. Elevated sulfatide excretion in compound heterozygotes of metachromatic leukodystrophy and ASA-pseudodeficiency allele.
Lugowska A; Tylki-Szymańska A; Berger J; Molzer B
Clin Biochem; 1997 Jun; 30(4):325-31. PubMed ID: 9209791
[TBL] [Abstract][Full Text] [Related]
4. Genotype-phenotype relationship in various degrees of arylsulfatase A deficiency.
Kappler J; Leinekugel P; Conzelmann E; Kleijer WJ; Kohlschütter A; Tønnesen T; Rochel M; Freycon F; Propping P
Hum Genet; 1991 Mar; 86(5):463-70. PubMed ID: 1673113
[TBL] [Abstract][Full Text] [Related]
5. Molecular genetics of metachromatic leukodystrophy.
Gieselmann V; Polten A; Kreysing J; Kappler J; Fluharty A; von Figura K
Dev Neurosci; 1991; 13(4-5):222-7. PubMed ID: 1687778
[TBL] [Abstract][Full Text] [Related]
6. Prevalence of arylsulfatase A pseudodeficiency allele in metachromatic leukodystrophy patients from Poland.
Lugowska A; Czartoryska B; Tylki-Szymańska A; Bisko M; Zimowski JG; Berger J; Molzer B
Eur Neurol; 2000; 44(2):104-7. PubMed ID: 10965162
[TBL] [Abstract][Full Text] [Related]
7. An assay for the rapid detection of the arylsulfatase A pseudodeficiency allele facilitates diagnosis and genetic counseling for metachromatic leukodystrophy.
Gieselmann V
Hum Genet; 1991 Jan; 86(3):251-5. PubMed ID: 1671769
[TBL] [Abstract][Full Text] [Related]
8. Arylsulfatase A pseudodeficiency incidence in Turkey.
Emre S; Topçu M; Terzioğlu M; Renda Y
Turk J Pediatr; 2000; 42(2):115-7. PubMed ID: 10936976
[TBL] [Abstract][Full Text] [Related]
9. Probable metachromatic leukodystrophy/pseudodeficiency compound heterozygote at the arylsulfatase A locus with neurological and psychiatric symptomatology.
Hohenschutz C; Friedl W; Schlör KH; Waheed A; Conzelmann E; Sandhoff K; Propping P
Am J Med Genet; 1988 Sep; 31(1):169-75. PubMed ID: 2906225
[TBL] [Abstract][Full Text] [Related]
10. Pseudodeficiency of arylsulphatase A: strategy for clarification of genotype in families of subjects with low ASA activity and neurological symptoms.
Leistner S; Young E; Meaney C; Winchester B
J Inherit Metab Dis; 1995; 18(6):710-6. PubMed ID: 8750609
[TBL] [Abstract][Full Text] [Related]
11. DNA-based diagnosis of arylsulfatase A deficiencies as a supplement to enzyme assay: a case in point.
Coulter-Mackie MB; Applegarth DA; Toone J; Vallance H
Clin Biochem; 1997 Feb; 30(1):57-61. PubMed ID: 9056111
[TBL] [Abstract][Full Text] [Related]
12. Investigations of micro-organic brain damage (MOBD) in heterozygotes of metachromatic leukodystrophy.
Tylki-Szymańska A; Ługowska A; Chmielik J; Kotowicz J; Jakubowska-Winecka A; Zobel M; Berger J; Molzer B
Am J Med Genet; 2002 Jul; 110(4):315-9. PubMed ID: 12116203
[TBL] [Abstract][Full Text] [Related]
13. Sixteen novel mutations in the arylsulfatase A gene causing metachromatic leukodystrophy.
Luzi P; Rafi MA; Rao HZ; Wenger DA
Gene; 2013 Nov; 530(2):323-8. PubMed ID: 24001781
[TBL] [Abstract][Full Text] [Related]
14. Arylsulfatase A pseudodeficiency--incidence in Poland.
Czartoryska B; Zimowski JG; Bisko M; Górska D
Eur J Hum Genet; 1996; 4(5):301-3. PubMed ID: 8946177
[TBL] [Abstract][Full Text] [Related]
15. An unusual homozygous arylsulfatase: a pseudodeficiency in a metachromatic leukodystrophy Tunisian patient.
Tinsa F; Caillaud C; Vanier MT; Bousnina D; Boussetta K; Bousnina S
J Child Neurol; 2010 Jan; 25(1):82-6. PubMed ID: 19574581
[TBL] [Abstract][Full Text] [Related]
16. Molecular genetics of metachromatic leukodystrophy.
Gieselmann V; Polten A; Kreysing J; von Figura K
J Inherit Metab Dis; 1994; 17(4):500-9. PubMed ID: 7967499
[TBL] [Abstract][Full Text] [Related]
17. Mutations in the arylsulfatase A pseudodeficiency allele causing metachromatic leukodystrophy.
Gieselmann V; Fluharty AL; Tønnesen T; Von Figura K
Am J Hum Genet; 1991 Aug; 49(2):407-13. PubMed ID: 1678251
[TBL] [Abstract][Full Text] [Related]
18. Two new polymorphisms in the arylsulfatase A gene and their haplotype associations with normal, metachromatic leukodystrophy and pseudodeficiency alleles.
Coulter-Mackie M; Gagnier L
Am J Med Genet; 1997 Nov; 73(1):32-5. PubMed ID: 9375919
[TBL] [Abstract][Full Text] [Related]
19. Diagnosis of arylsulfatase A deficiency.
Li ZG; Waye JS; Chang PL
Am J Med Genet; 1992 Aug; 43(6):976-82. PubMed ID: 1357970
[TBL] [Abstract][Full Text] [Related]
20. Late juvenile metachromatic leukodystrophy (MLD) in three patients with a similar clinical course and identical mutation on one allele.
Tylki-Szymanska A; Berger J; Löschl B; Lugowska A; Molzer B
Clin Genet; 1996 Nov; 50(5):287-92. PubMed ID: 9007312
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]